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Interpretation of NOTCH3 mutations in the diagnosis of CADASIL.
Rutten JW, Haan J, Terwindt GM, van Duinen SG, Boon EM, Lesnik Oberstein SA. Rutten JW, et al. Expert Rev Mol Diagn. 2014 Jun;14(5):593-603. doi: 10.1586/14737159.2014.922880. Expert Rev Mol Diagn. 2014. PMID: 24844136 Review.
Hypomorphic NOTCH3 alleles do not cause CADASIL in humans.
Rutten JW, Boon EM, Liem MK, Dauwerse JG, Pont MJ, Vollebregt E, Maat-Kievit AJ, Ginjaar HB, Lakeman P, van Duinen SG, Terwindt GM, Lesnik Oberstein SA. Rutten JW, et al. Hum Mutat. 2013 Nov;34(11):1486-9. doi: 10.1002/humu.22432. Epub 2013 Oct 7. Hum Mutat. 2013. PMID: 24000151
The NOTCH3 score: a pre-clinical CADASIL biomarker in a novel human genomic NOTCH3 transgenic mouse model with early progressive vascular NOTCH3 accumulation.
Rutten JW, Klever RR, Hegeman IM, Poole DS, Dauwerse HG, Broos LA, Breukel C, Aartsma-Rus AM, Verbeek JS, van der Weerd L, van Duinen SG, van den Maagdenberg AM, Lesnik Oberstein SA. Rutten JW, et al. Acta Neuropathol Commun. 2015 Dec 29;3:89. doi: 10.1186/s40478-015-0268-1. Acta Neuropathol Commun. 2015. PMID: 26715087 Free PMC article.
Archetypal NOTCH3 mutations frequent in public exome: implications for CADASIL.
Rutten JW, Dauwerse HG, Gravesteijn G, van Belzen MJ, van der Grond J, Polke JM, Bernal-Quiros M, Lesnik Oberstein SA. Rutten JW, et al. Ann Clin Transl Neurol. 2016 Sep 28;3(11):844-853. doi: 10.1002/acn3.344. eCollection 2016 Nov. Ann Clin Transl Neurol. 2016. PMID: 27844030 Free PMC article.
The effect of NOTCH3 pathogenic variant position on CADASIL disease severity: NOTCH3 EGFr 1-6 pathogenic variant are associated with a more severe phenotype and lower survival compared with EGFr 7-34 pathogenic variant.
Rutten JW, Van Eijsden BJ, Duering M, Jouvent E, Opherk C, Pantoni L, Federico A, Dichgans M, Markus HS, Chabriat H, Lesnik Oberstein SAJ. Rutten JW, et al. Genet Med. 2019 Mar;21(3):676-682. doi: 10.1038/s41436-018-0088-3. Epub 2018 Jul 22. Genet Med. 2019. PMID: 30032161 Free PMC article.
Serum Neurofilament light correlates with CADASIL disease severity and survival.
Gravesteijn G, Rutten JW, Verberk IMW, Böhringer S, Liem MK, van der Grond J, Aartsma-Rus A, Teunissen CE, Lesnik Oberstein SAJ. Gravesteijn G, et al. Among authors: rutten jw. Ann Clin Transl Neurol. 2018 Nov 20;6(1):46-56. doi: 10.1002/acn3.678. eCollection 2019 Jan. Ann Clin Transl Neurol. 2018. PMID: 30656183 Free PMC article.
Progression and Classification of Granular Osmiophilic Material (GOM) Deposits in Functionally Characterized Human NOTCH3 Transgenic Mice.
Gravesteijn G, Munting LP, Overzier M, Mulder AA, Hegeman I, Derieppe M, Koster AJ, van Duinen SG, Meijer OC, Aartsma-Rus A, van der Weerd L, Jost CR, van den Maagdenberg AMJM, Rutten JW, Lesnik Oberstein SAJ. Gravesteijn G, et al. Among authors: rutten jw. Transl Stroke Res. 2020 Jun;11(3):517-527. doi: 10.1007/s12975-019-00742-7. Epub 2019 Oct 30. Transl Stroke Res. 2020. PMID: 31667734 Free PMC article.
31 results